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Genetic Testing for Colorectal Cancer

BIDMC Contributor

APRIL 01, 2016

A Q & A with Mandeep Sawhney, MD

Family history plays a role in about 20 percent of all colorectal cancer cases in the U.S. Having one or more first-degree relatives (parents, siblings or children) with colorectal cancer can increase your risk of the disease.

Dr. Mandeep Sawhney, Director of Therapeutic Endoscopy in Endoscopy Research in the Division of Gastroenterology at Beth Israel Deaconess Medical Center, discusses genetic counseling and testing for colorectal cancer, and how it can help determine your risk and means of prevention if you have a family history of the disease.

Q. What is the colorectal genetic testing program at BIDMC?

The Cancer Genetics and Prevention Program provides genetic counseling and testing to individuals at an increased risk for hereditary cancer syndromes. We work with patients and their families to develop cancer screening and prevention strategies tailored to their individual cancer risks. Our services include hereditary cancer risk assessment, genetic counseling, genetic testing and long-term risk management. In addition to colon cancer, we have multidisciplinary programs for breast and ovarian cancer, as well as pancreatic cancer.

Q. Who is eligible to participate in genetic screening?

Most colon cancers are sporadic and therefore most patients who develop colon cancer do not have inherited genetic conditions. However, it is very important to identify those with inherited conditions because their risk of developing colon cancer can be almost 100 percent. By proper screening and preventative surgery, that risk can be substantially reduced and at times virtually eliminated.

In general, patients with more than one family member with colon cancer, or with a very young family member with colon cancer, should be considered for genetic testing. Patients with a large number of colon polyps or those with unusual types of colon polyps should also be considered for testing.

All colon cancers diagnosed at BIDMC are routinely screened to determine if they may have developed as the result of a genetic mutation. If that is found to be the case, the patient is offered genetic testing.

Q. What can patients expect at their first appointment?

The patient’s first appointment will usually be with a genetic counselor. A genetic counselor is a health professional with graduate training in medical genetics and counseling skills. Genetic counselors are able to identify and interpret risks of inherited disease, recommend appropriate genetic testing, and discuss how genetic testing affects individuals and families.

Patients may be scheduled for a follow-up visit with a physician to discuss medical management recommendations based on their family history and/or genetic test results.

Q. Is genetic testing covered by insurance?

Most insurance companies cover the cost of testing when it’s medically necessary. The cost of genetic testing varies, but currently ranges between $300 and $3,000. The labs that perform genetic testing will contact the insurance company to determine if patients have an out-of-pocket cost for genetic testing upon receiving a blood sample.

If a patient’s out-of-pocket expense exceeds a predetermined amount, they will call the patient before processing the test. Patients have the option to decline testing, if you are not comfortable with the out-of-pocket expense.

Q. How long does it take for the patient to get results?

Genetic test results often take two to four weeks to come back.

Q. If the patient is determined to be high-risk, what is the next step?

If the patient is found to have a genetic mutation, we tailor an individualized prevention program for them. This takes into account their age, other medical problems and personal preferences. We can also help patients explain the results of genetic testing to other family members so they can be tested as well. It is not unusual for us to follow several members of the same family in our program.

Q. Can I still get life insurance coverage if I have genetic testing?

Genetic discrimination is a concern for some patients when considering genetic testing. Federal and state laws prevent genetic discrimination based on genetic test results. The Genetic Information Non-discrimination Act (GINA) provides protection from genetic discrimination on a national level — it prohibits discrimination by health insurance companies and employers based on “genetic information.” In this case, “genetic information” is defined as your genetic test results, your relatives’ genetic test results (up to and including fourth degree relatives), and/or information about family history of any disease or disorder.

These laws, however, do not protect individuals from genetic discrimination in life, long-term disability, or long-term care insurance policies. Some individuals consider making changes to their insurance policies before pursuing genetic counseling and testing. This is more often a concern for individuals who have never been diagnosed with cancer. To our knowledge, insurance discrimination based on genetic testing is rare.

For more information about the Cancer Genetics and Prevention Program at BIDMC, go to bidmc.org/cancergeneticsor call 617-667-1905.